Muscle damage in women transmitting DMD / DMB more common than expected

• A cross-sectional study of 53 women with pathological abnormalities of the DMD gene, leading to either DMD (33/53) or BMD (20/53) showed: 

• signs of muscle damage for 81% of them, with decrease in muscle strength (40% of cases) and / or fatty infiltration visible on muscle MRI (72%); 
• this impairment is symptomatic in 57% of cases (fatigue, weakness or muscle pain);
• high CPK and myoglobin (57% of participants).

• According to previous studies on the subject, only 5 to 22% of these women developed muscle and / or heart damage, but these numbers could be underestimated.

 

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants. Freja Fornander, Tuva Åsatun Solheim, Anne-Sofie Vibæk Eisum et al. Front Neurol. 2021 (Sep)